한국인 베체트병 환자에서 T-bet 유전자 다형성에 관한 연구

• Published in: Journal of rheumatic diseases Vol. 17; no. 4; pp. 360 - 367
• Main Authors: 김진현, Jin Hyun Kim, 이윤종, Yun Jong Lee, 황재희, Jae Hee Hwang, 백한주, Han Joo Baek, 강성욱, Seong Wook Kang, 배영덕, Young Deok Bae, 송승택, Seung Taek Song, 최효진, Hyo Jin Choi, 송주경, Ju Kyoung Song, 유인설, In Seol Yoo
• Format: Journal Article
• Language: Korean
• Published: 대한류마티스학회 30.12.2010
• Subjects: Behcet`s disease; TBX21 gene polymorphisms; 내과학
• ISSN: 2093-940X; 2233-4718

Objective: Behcet`s disease (BD) is a chronic systemic inflammatory disease with unknown etiology. A number of clinical and laboratory findings suggest a strongly polarized Th1 immune response in BD. T-bet is a newly identified Th1 specific T-box transcription factor selectively expressed in Th1 cells. However, it is not yet clear whether the T-bet protein is involved in the proposed Th1-mediated pathogenesis of BD at the transcriptional level. Therefore, this study investigated the potential associations of two single nucleotide polymorphisms (SNPs) at positions -99 (C/G) and -1993 (T/C) in the exon and promoter regions of the TBX21 gene with susceptibility to BD in the Korean population. Methods: 105 patients with BD and 105 healthy controls were studied. All subjects were genotyped using restriction fragment length polymorphism analysis. The genotypes of the two groups were compared with the chi-square or Fisher`s exact tests. Results: The genotypic and allelic distributions of the two SNPs did not differ significantly between the two groups. Furthermore, no associations between the polymorphisms and clinical manifestations were found, except a central nervous system manifestation and arthritis. Furthermore, no associations between the polymorphisms and severity were identified. Conclusion: TBX21 gene polymorphisms were not associated with susceptibility, clinical manifestations, or severity of BD in the Korean population.